Canonical Allele Identifier: CA517471508

Gene: ATRX

Linked Data

• gnomAD v4: X-77652318-C-T
• MyVariant Identifiers: chrX:g.76907808C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652318C>T , CM000685.2:g.77652318C>T	GRCh38
NC_000023.10:g.76907808C>T , CM000685.1:g.76907808C>T	GRCh37
NC_000023.9:g.76794464C>T	NCBI36
NG_008838.2:g.138904G>A
NG_008838.3:g.138952G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4353G>A MANE Select	ENSP00000362441.4:p.Glu1451=
ENST00000373344.9:c.4353G>A	ENSP00000362441.4:p.Glu1451=
ENST00000395603.7:c.4239G>A	ENSP00000378967.3:p.Glu1413=
ENST00000480283.5:c.*3981G>A	ENSP00000480196.1:n.*3981G>A
NM_000489.4:c.4353G>A	NP_000480.3:p.Glu1451=
NM_138270.3:c.4239G>A	NP_612114.2:p.Glu1413=
XM_005262153.3:c.4350G>A	XP_005262210.2:p.Glu1450=
XM_005262154.3:c.4266G>A	XP_005262211.2:p.Glu1422=
XM_005262155.3:c.4236G>A	XP_005262212.2:p.Glu1412=
XM_005262156.3:c.4188G>A	XP_005262213.2:p.Glu1396=
XM_005262157.3:c.4149G>A	XP_005262214.2:p.Glu1383=
XM_006724666.2:c.4236G>A	XP_006724729.1:p.Glu1412=
XM_006724667.2:c.4074G>A	XP_006724730.1:p.Glu1358=
XM_006724668.2:c.4353G>A	XP_006724731.1:p.Glu1451=
XR_938400.1:n.4621G>A
NM_000489.5:c.4353G>A	NP_000480.3:p.Glu1451=
XM_005262153.5:c.4350G>A	XP_005262210.2:p.Glu1450=
XM_005262154.5:c.4266G>A	XP_005262211.2:p.Glu1422=
XM_005262155.4:c.4236G>A	XP_005262212.2:p.Glu1412=
XM_005262156.4:c.4188G>A	XP_005262213.2:p.Glu1396=
XM_005262157.5:c.4149G>A	XP_005262214.2:p.Glu1383=
XM_006724666.4:c.4236G>A	XP_006724729.1:p.Glu1412=
XM_006724667.3:c.4074G>A	XP_006724730.1:p.Glu1358=
XM_006724668.3:c.4353G>A	XP_006724731.1:p.Glu1451=
XM_017029601.2:c.4263G>A	XP_016885090.1:p.Glu1421=
XM_017029602.1:c.4233G>A	XP_016885091.1:p.Glu1411=
XM_017029603.1:c.4185G>A	XP_016885092.1:p.Glu1395=
XM_017029604.2:c.4152G>A	XP_016885093.1:p.Glu1384=
XM_017029605.1:c.4149G>A	XP_016885094.1:p.Glu1383=
XM_017029606.2:c.4122G>A	XP_016885095.1:p.Glu1374=
XM_017029607.2:c.4119G>A	XP_016885096.1:p.Glu1373=
XM_017029608.2:c.4071G>A	XP_016885097.1:p.Glu1357=
XM_017029609.1:c.4035G>A	XP_016885098.1:p.Glu1345=
XM_017029610.1:c.4032G>A	XP_016885099.1:p.Glu1344=
XM_017029611.1:c.3987G>A	XP_016885100.1:p.Glu1329=
XR_001755700.2:n.4578G>A
NM_138270.4:c.4239G>A	NP_612114.2:p.Glu1413=
NM_000489.6:c.4353G>A MANE Select	NP_000480.3:p.Glu1451=
NM_138270.5:c.4239G>A	NP_612114.2:p.Glu1413=